Canonical Allele Identifier: CA5283572
Gene: ASS1 HGNC NCBI
COSMIC:
COSM1460495
COSM5830967 (not active)
MyVariant.info:
GRCh38 chr9:g.130489413C>T
GRCh37 chr9:g.133364800C>T
Revel Score:
ENST00000334909 0.889
ENST00000352480 (MANE Select) 0.889
ENST00000372394 0.889
ENST00000372393 0.889
ENST00000372386 0.889
gnomAD v2:
9:133364800 C / T
gnomAD v3:
9:130489413 C / T
gnomAD v4:
chr9-130489413-C-T
Joint Max Group AF 0.00016624 (AMR)
Genomes Max Group AF 0.0000788 (AFR)
Exomes Max Group AF 0.00017148 (AMR)
ClinVar Allele:
259915
ClinVar RCV:
RCV000255358
RCV000558661
RCV001376643
ClinVar Variation:
265044
dbSNP:
183276875
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489413C>T , CM000671.2:g.130489413C>T GRCh38
NC_000009.11:g.133364800C>T , CM000671.1:g.133364800C>T GRCh37
NC_000009.10:g.132354621C>T NCBI36
NG_011542.1:g.49707C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.919C>T MANE Select ENSP00000253004.6:p.Arg307Cys
ENST00000352480.9:c.919C>T ENSP00000253004.6:p.Arg307Cys
ENST00000372386.6:n.190C>T
ENST00000372393.7:c.919C>T ENSP00000361469.2:p.Arg307Cys
ENST00000372394.5:c.919C>T ENSP00000361471.1:p.Arg307Cys
ENST00000470849.4:n.644C>T
ENST00000492400.5:n.428C>T
NM_000050.4:c.919C>T NP_000041.2:p.Arg307Cys
NM_054012.3:c.919C>T NP_446464.1:p.Arg307Cys
XM_005272200.2:c.919C>T XP_005272257.1:p.Arg307Cys
XM_011518705.1:c.1033C>T XP_011517007.1:p.Arg345Cys
XM_005272200.3:c.919C>T XP_005272257.1:p.Arg307Cys
XM_011518705.2:c.1033C>T XP_011517007.1:p.Arg345Cys
XM_017014729.1:c.1015C>T XP_016870218.1:p.Arg339Cys
NM_054012.4:c.919C>T MANE Select NP_446464.1:p.Arg307Cys
Search 100 bp 5'
Search 100 bp 3'